ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.180T>C (p.Ser60=)

dbSNP: rs752482067
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925652 SCV002177571 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2021-10-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs752482067, ExAC 0.006%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This sequence change affects codon 60 of the SDHC mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SDHC protein. It affects a nucleotide within the consensus splice site of the intron.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.